8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
3 citations
,
March 2023 in “International journal of molecular sciences” This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
49 citations
,
October 2022 in “PubMed” This review examines alopecia, its causes, the impact of micronutrients, and the role of the Mediterranean diet, noting conflicting data and a need for more research on diet's effect on hair loss.
June 2023 in “Stem cell reviews and reports” This review summarizes current methods, effectiveness, and clinical progress of stem cell therapies for androgenetic alopecia, highlighting their potential for hair regrowth and follicle repair despite unclear long-term effects and mechanisms.
24 citations
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May 1963 in “Archives of Dermatology” In this study of postpartum alopecia, most patients experienced significant hair regrowth within four to six months, and heredity did not appear to be a significant factor in hair loss.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
3 citations
,
January 2013 This chapter discusses hypothyroidism in dogs, highlighting that most cases are due to primary thyroid gland issues and that some breeds may have a hereditary predisposition; it reports no new clinical findings.
156 citations
,
August 2016 in “Journal of controlled release” This review summarizes current knowledge on tight junctions in mammalian skin and their role in drug delivery and interaction with other barrier components, but reports no new experimental results.
9 citations
,
January 2017 in “Elsevier eBooks” This chapter discusses the skin stem cell niche as a complex ecosystem and highlights the diverse components and interactions that influence stem cell function, but it reports no new experimental results.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
In this review, researchers evaluated 111 studies on the biological activities and phytochemical components of the plant Tridax procumbens, emphasizing its ethnobotanical potential and the need for more research to understand its therapeutic benefits, especially in its native tropical regions.
January 2024 in “Wiadomości Lekarskie” This study found that kinematic alignment in total knee arthroplasty leads to a higher proportion of patients requiring smaller femoral components compared to traditional mechanical alignment, with statistical significance observed in femoral sizing differences between the two groups.
15 citations
,
February 2017 in “International Journal of Women's Dermatology” This source summarizes discussions by an advisory board of twelve experts on hair loss, focusing on heredity, aging, and environmental impacts, and emphasizing strategies that may slow alopecia.
January 2026 in “Scientific Reports” In this study, researchers found that sesamin, a component of sesamum, modulated the AR-MAPK-Wnt signaling pathway in DHT-stimulated HaCaT keratinocytes, demonstrating potential multi-target activity against molecular events in androgenetic alopecia.
1 citations
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July 1973 in “British Journal of Dermatology” The document concludes that secondary syphilis cases are increasing and often misdiagnosed, pityriasis rubra pilaris can be distinguished from psoriasis by skin cell features, and different skin layers produce specific components during skin repair.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
1 citations
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February 1988 in “The BMJ” The document explains different hair and scalp conditions, including common hair loss after pregnancy or illness, drug-induced hair loss, hereditary excessive hair growth, patterned baldness, autoimmune hair loss, and permanent loss due to skin disease, with generally limited treatment options.
1 citations
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October 2024 in “Canine Medicine and Genetics” This study suggests a potential genetic component in CFA among Ridgeback dogs, but MLPH genotyping did not identify the MLPH gene as a contributing factor.
37 citations
,
August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that in a mouse model with hereditary 1,25-dihydroxyvitamin D resistant rickets, a mutant vitamin D receptor lacking hormone-binding ability could restore normal hair cycling and affect parathyroid hormone regulation.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” This case report identified UVB photosensitivity and testicular failure as previously unreported components of low-sulfur hair syndrome in a 16-year-old male.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
229 citations
,
August 2002 in “Experimental Gerontology” This paper discusses key mechanisms of androgen metabolism in androgenetic alopecia and reports the effectiveness of treatments like oral finasteride and topical minoxidil, highlighting the limited success rate due to factors like follicular inflammation.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
1 citations
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July 2018 in “Elsevier eBooks” This review covers androgenetic alopecia's epidemiology, pathogenesis, current management options, and research trends, concluding that no definitive cure exists despite extensive interest and ongoing genetic research efforts.
April 2008 in “Obstetrics, gynaecology and reproductive medicine” This article reviews the diagnosis and management of hirsutism in women, discussing its causes, assessment, and treatment options; no new clinical findings are included.
April 2023 in “International journal of medical and biomedical studies” This study observed that among 126 Indian patients with androgenetic alopecia, 29.4% had metabolic syndrome, with higher severity of alopecia correlating with increased prevalence of metabolic syndrome components such as obesity and hypertension, suggesting early screening for metabolic risks could be beneficial.